Personalized Medicine

Name: Nawab KhatoonPresented to: Mam Hina

Personalized Medicine

Lets see a short video clip• http://

bioinformaticsonline.com/videolist/watch/4003/personalised-medicine-animation

What does Personalized Medicine Means?

“Personalized medicine is the use of diagnostic and screening methods to better manage the individual patient’s disease or predisposition toward a disease….

“Personalized medicine combines patients genomic information with their family history, Lifestyle and environmental factors to make better prediction about their risk for disease or response to prescription drugs and tailor treatments for improved health”

Personalized Medicine: DefinitionPersonalized Medicine

Standard Biochemical Pathway

GCCCACCTC

CGGGTGGAG

GCCCACCUC

DNA (genome)

RNA (transcript)

protein(e.g., enzyme)

metabolites

A New Biomarker Toolbox: Shift to Personalized Care

Human Genome Sequence(Genomics)

Polymorphisms ~ 10,000,000

Gene Expression Profiles(Transcriptomics)

Microarrays of ~ 25,000 gene transcripts

Proteome (Proteomics)

Protein arrays of specific protein products ~ 100,000

Metabolome(Metabolomics)

Small molecule metabolites ~ 5000

A New Biomarker Toolbox: Shift to Personalized Care

DNA Microarry

Example: Gene Expression Profiling

Example: Gene Expression Profiling

DNA cleaved in fragmentsFragments fixed on beads (excess)PCR amplification in emulsion (1 bead/droplet)Transfer to multi-well (pL) slide(1 bead/well)Addition of smaller beads covered with enzymes involved in sequencing

Elongation of fragmentsSequential injection of nucleotidesIf the nucleotide is incorporated, generation of light detected by a camera

Outcome A Outcome B

Patient A Patient B

Cardiovascular Insult or Therapy

Gene chips “Biosignatures”

Concept of “Biosignature”

Standard of Care(A or B)

“Omics”-guidedA or B

OutcomeRandom Selection

A or B

Outcome

Health and Economic Outcomes

The Path to Personalized Medicine

A B

The Path to Personalized Medicine

• Polymorphism – an area of DNA sequence that varies from person to person

• “Single nucleotide polymorphism” (SNP) – a polymorphism in which a single base in the DNA differs from the usual base at that position

• “Copy number variant” (CNV) – a polymorphism in which the number of repeats of a DNA sequence at a location varies from person to person

• “Indel” – a polymorphism in which a DNA sequence is either present (insertion) or absent (deletion) at a location, varying from person to person

Genomics – DefinitionsGenomics – Definitions

Types of Polymorphisms

GCCCGCCTC

CGGGCGGAG

GCCCACCTCCTC

CGGGTGGAGGAG

GCC CTC

CGG GAG

Single Nucleotide Polymorphism (SNP)

Copy Number Variant (CNV)

“Indel” Polymorphism

GCCCACCTC

CGGGTGGAG

Example of patient treated by Personalized Medicine

• Story of Cleb Nolan suffering from Cystic Fibrosis disease• Completely recovered by Personalized Medicine

Where is Personalized Medicine Helping most?• Melanoma: 73%• Thyroid: 51%• Colorectal: 51%• Lung and pancreatic: 41%• Breast: 32%• Other diseases too

Future of personalized Medicine• According to Abrahams, “ At some point, and I don’t know whether that will be 10 to 15 years from now, we will reach that tipping point where all medicines are linked to diagnostics, and we will move out of the one size fits all paradigm,” he says

“One day, Patients will say, “I'm not an average patient. I am who I am. You need to understand who I am before you prescribe whatever treatment you plan to prescribe”, he says. "When that day comes, we’ll no longer have to talk about personalized medicine”

ThankYou!